List of variants in gene TBC1D24 reported as pathogenic for autosomal recessive nonsyndromic hearing loss 86

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val)	rs773916549
NM_001199107.2(TBC1D24):c.194G>T (p.Arg65Leu)	rs878853232
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr)	rs587777147
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1])	rs761918906
NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter)	rs1567411469
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs)	rs766769998
NM_001199107.2(TBC1D24):c.76G>T (p.Glu26Ter)
NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro)	rs199700840
NM_001199107.2(TBC1D24):c.965+1G>A	rs1390045914

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